Primer effect in the detection of mtDNA heteroplasmy: insights from horse Cytochrome b gene

文献类型： 外文期刊

第一作者： Zhao, Qianjun

作者： Zhao, Qianjun;Kang, Ye;Pu, Yabin;Guan, Weijun;He, Xiaohong;Ma, Yuehui;Niu, Lili;Zhang, Hongping;Zhong, Tao;Lim, Hyuntae

作者机构：

关键词： Heteroplasmy;horse;mitochondrial DNA;primer

期刊名称：MITOCHONDRIAL DNA （ 影响因子：0.925； 五年影响因子：0.994 ）

ISSN： 1940-1736

年卷期： 2015 年 26 卷 2 期

页码：

收录情况： SCI

摘要： Heteroplasmy, the presence of bi-allelic mtDNA types within an individual, has been previously detected in the D-loop region and Cytochrome b gene (Cytb) of mitochondrial DNA using PCR-RFLP. However, heteroplasmy was absent in thousands of equine mtDNA sequences deposited in GenBank. To address whether heteroplasmy widely exists in mitochondria of Chinese indigenous horses, we generated the data set of the target sites in Cytb region with Sanger sequencing and PCR-RFLP method as well. In this study, 23 heteroplasmic individuals were detected in 430 Chinese local horses. Both site and length heteroplasmy were identified in horse Cytb, especially in Xinihe and Ujumqin breeds. Our data provide evidence that the forward and reverse primers seem to produce a similar approximation to the proportion of mutation base call. However, locations of primers affected the proper detection of mtDNA heteroplasmy. The data obtained in this study highlight the importance of the primers in the accurate detection of heteroplasmy.

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